Variant report

Variant	rs298210
Chromosome Location	chr8:65290369-65290370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr8:65289051-65292843	NT2-D1	testis:	n/a	n/a
2	CHD1	chr8:65290122-65291003	H1-hESC	embryonic stem cell:	n/a	chr8:65290397-65290407
3	EGR1	chr8:65290003-65291039	H1-hESC	embryonic stem cell:	n/a	chr8:65290392-65290405 chr8:65290741-65290751 chr8:65290418-65290428
4	POLR2A	chr8:65288951-65295304	H1-neurons	neurons:	n/a	n/a
5	CTBP2	chr8:65290082-65291212	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr8:65288998-65290398	H1-neurons	neurons:	n/a	n/a
7	ZNF143	chr8:65289973-65291089	H1-hESC	embryonic stem cell:	n/a	chr8:65290831-65290841 chr8:65290396-65290414
8	SIN3A	chr8:65288981-65291178	H1-hESC	embryonic stem cell:	n/a	chr8:65289118-65289132
9	YY1	chr8:65290071-65291097	H1-hESC	embryonic stem cell:	n/a	chr8:65290409-65290423
10	POLR2A	chr8:65280622-65295094	H1-neurons	neurons:	n/a	n/a
11	REST	chr8:65278315-65295919	H1-neurons	neurons:	n/a	chr8:65287965-65287979 chr8:65292640-65292660 chr8:65287971-65287980 chr8:65282886-65282899 chr8:65292640-65292653 chr8:65292646-65292660 chr8:65284165-65284179 chr8:65286571-65286584 chr8:65282249-65282262 chr8:65292655-65292668 chr8:65290755-65290773 chr8:65292648-65292658 chr8:65286394-65286407 chr8:65282341-65282354 chr8:65292640-65292660 chr8:65282879-65282892 chr8:65289131-65289149 chr8:65284167-65284175 chr8:65281972-65281982 chr8:65282341-65282354 chr8:65287965-65287985 chr8:65292645-65292654 chr8:65282976-65282989 chr8:65289117-65289137 chr8:65292641-65292659 chr8:65289117-65289131 chr8:65283924-65283937 chr8:65292640-65292649 chr8:65292640-65292660 chr8:65292652-65292665 chr8:65287965-65287985 chr8:65282155-65282168 chr8:65282155-65282168 chr8:65281962-65281975 chr8:65292643-65292656 chr8:65289117-65289137 chr8:65292643-65292656 chr8:65293231-65293249 chr8:65289121-65289134 chr8:65287003-65287017
12	MAX	chr8:65290123-65291047	H1-hESC	embryonic stem cell:	n/a	chr8:65290747-65290757 chr8:65290534-65290544
13	MAX	chr8:65290103-65291095	H1-hESC	embryonic stem cell:	n/a	chr8:65290747-65290757 chr8:65290534-65290544
14	TAF1	chr8:65288978-65290412	H1-neurons	neurons:	n/a	n/a
15	REST	chr8:65283352-65292354	H1-neurons	neurons:	n/a	chr8:65287965-65287979 chr8:65287971-65287980 chr8:65284165-65284179 chr8:65286571-65286584 chr8:65290755-65290773 chr8:65286394-65286407 chr8:65289131-65289149 chr8:65284167-65284175 chr8:65287965-65287985 chr8:65289117-65289137 chr8:65289117-65289131 chr8:65283924-65283937 chr8:65287965-65287985 chr8:65289117-65289137 chr8:65289121-65289134 chr8:65287003-65287017

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:65290320-65290370	CMK	blood:	n/a
2	chr8:65290320-65290370	ovcar-3	ovarian:	n/a
3	chr8:65290320-65290370	AoSMC	blood vessel:	n/a
4	chr8:65290320-65290370	PFSK-1	brain:	n/a
5	chr8:65290320-65290370	A549	lung:	n/a
6	chr8:65290320-65290370	T-47D	breast:	n/a
7	chr8:65290320-65290370	HCF	heart:	n/a
8	chr8:65290320-65290370	HMEC	breast:	n/a
9	chr8:65290320-65290370	SKMC	muscle:	n/a
10	chr8:65290320-65290370	GM19239	blood:	n/a
11	chr8:65290320-65290370	HCT-116	colon:	n/a
12	chr8:65290320-65290370	NHDF-neo	bronchial:	n/a
13	chr8:65290320-65290370	HUVEC	blood vessel:	n/a
14	chr8:65290320-65290370	PANC-1	pancreas:	n/a
15	chr8:65290320-65290370	LNCaP	prostate:	n/a
16	chr8:65290320-65290370	HAEpiC	amniotic membrane:	n/a
17	chr8:65290320-65290370	Hepatocyte	liver:	n/a
18	chr8:65290320-65290370	Caco-2	colon:	n/a
19	chr8:65290320-65290370	ECC-1	luminal epithelium:	n/a
20	chr8:65290320-65290370	BE2_C	brain:	n/a
21	chr8:65290320-65290370	HIPEpiC	eye:	n/a
22	chr8:65290320-65290370	HCM	heart:	n/a
23	chr8:65290320-65290370	HepG2	liver:	n/a
24	chr8:65290320-65290370	RPTEC	kidney:	n/a
25	chr8:65290320-65290370	SK-N-SH	brain:	n/a
26	chr8:65290320-65290370	H1-hESC	embryonic stem cell:	embryo
27	chr8:65290320-65290370	HRCEpiC	kidney:	n/a
28	chr8:65290320-65290370	HCPEpiC	choroid plexus:	n/a
29	chr8:65290320-65290370	AG09309	skin:	n/a
30	chr8:65290320-65290370	Jurkat	blood:	n/a
31	chr8:65290320-65290370	IMR90	lung:	fetal
32	chr8:65290320-65290370	MCF10A-Er-Src	breast:	n/a
33	chr8:65290320-65290370	HEK293	kidney:	embryo
34	chr8:65290320-65290370	NHBE	bronchial:	n/a
35	chr8:65290320-65290370	MCF-7	breast:	n/a
36	chr8:65290320-65290370	BJ	skin:	n/a
37	chr8:65290320-65290370	Hela-S3	cervix:	n/a
38	chr8:65290320-65290370	AG09319	gingival:	n/a
39	chr8:65290320-65290370	HL-60	blood:	n/a
40	chr8:65290320-65290370	SK-N-SH_RA	brain:	n/a
41	chr8:65290320-65290370	NB4	blood:	n/a
42	chr8:65290320-65290370	NH-A	brain:	n/a
43	chr8:65290320-65290370	PrEC	prostate:	n/a
44	chr8:65290320-65290370	HPAEpiC	pulmonary alveolar:	n/a
45	chr8:65290320-65290370	HEEpiC	esophagus:	n/a
46	chr8:65290320-65290370	SK-N-MC	brain:	n/a
47	chr8:65290320-65290370	GM06990	blood:	n/a
48	chr8:65290320-65290370	SAEC	small airway:	n/a
49	chr8:65290320-65290370	HRPEpiC	eye:	n/a
50	chr8:65290320-65290370	HRE	kidney:	n/a

Variant related genes	Relation type
LINC00966	TF binding region
MIR124-2	TF binding region
LINC00966	CpG island
MIR124-2	CpG island

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10098936	1.00[AFR][1000 genomes]
rs1440144	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1823667	0.80[ASN][1000 genomes]
rs192721	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218045	0.80[ASN][1000 genomes]
rs2246411	0.92[ASN][1000 genomes]
rs2577887	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2577894	0.80[ASN][1000 genomes]
rs2577897	0.85[ASN][1000 genomes]
rs2600466	0.80[ASN][1000 genomes]
rs2600467	0.92[ASN][1000 genomes]
rs2600470	0.85[ASN][1000 genomes]
rs2600471	0.88[ASN][1000 genomes]
rs2600472	0.88[ASN][1000 genomes]
rs2612589	0.80[ASN][1000 genomes]
rs2612590	0.80[ASN][1000 genomes]
rs2612600	0.88[ASN][1000 genomes]
rs2612603	0.82[ASN][1000 genomes]
rs298176	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298177	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298179	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298182	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298183	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298184	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298185	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298186	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298196	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298197	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298198	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298199	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298200	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298207	1.00[AFR][1000 genomes]
rs298213	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298214	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298215	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298216	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298218	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110288	0.81[ASN][1000 genomes]
rs3110289	0.87[ASN][1000 genomes]
rs59712423	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948343	chr8:64804219-65328394	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1031877	chr8:65240464-65291136	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1825065	chr8:65244654-65311200	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv523097	chr8:65283691-65295491	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65285600-65290600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:65286000-65293400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:65286600-65290600	Active TSS	Fetal Brain Female	brain
4	chr8:65288800-65290800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr8:65289000-65291000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr8:65289000-65291200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr8:65289000-65292400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr8:65289200-65291000	ZNF genes & repeats	Lung	lung
9	chr8:65289400-65290400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
10	chr8:65289400-65290800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:65289400-65291000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr8:65289400-65291000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:65289400-65291400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:65289600-65290400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
15	chr8:65289600-65291000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr8:65289800-65290600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:65289800-65290800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
18	chr8:65289800-65290800	Enhancers	Gastric	stomach
19	chr8:65289800-65291000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr8:65289800-65291000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:65289800-65291000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr8:65289800-65291000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
23	chr8:65289800-65291000	Enhancers	Pancreas	Pancrea
24	chr8:65289800-65291200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr8:65290000-65290400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
26	chr8:65290000-65290400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:65290000-65290400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
28	chr8:65290000-65290400	Bivalent Enhancer	Liver	Liver
29	chr8:65290000-65290400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
30	chr8:65290000-65290400	Flanking Bivalent TSS/Enh	Right Ventricle	heart
31	chr8:65290000-65290400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
32	chr8:65290000-65290600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:65290000-65290600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:65290000-65290800	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:65290000-65291000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr8:65290200-65290400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
37	chr8:65290200-65290400	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
38	chr8:65290200-65290400	Bivalent Enhancer	Colon Smooth Muscle	Colon
39	chr8:65290200-65290400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
40	chr8:65290200-65290400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr8:65290200-65290400	Bivalent Enhancer	Fetal Stomach	stomach
42	chr8:65290200-65290400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
43	chr8:65290200-65290400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
44	chr8:65290200-65290400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
45	chr8:65290200-65290600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:65290200-65290600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:65290200-65290600	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr8:65290200-65290600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
49	chr8:65290200-65290600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr8:65290200-65290600	Flanking Active TSS	Fetal Brain Male	brain

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